A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006789



Internal ID18749320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25269444..25335502hg38UCSC Ensembl
Innerchr1:25595935..25661993hg19UCSC Ensembl
Innerchr1:25468522..25534580hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3866059
hg1966059
hg1866059
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv137n100
Supporting Variantsnssv3473221, nssv3470737, nssv3475902, nssv3480866, nssv3473750, nssv3480994, nssv3476464, nssv3471405, nssv3481467, nssv3472646, nssv3698496, nssv3471823, nssv3481458, nssv3468294, nssv3479883, nssv3698495, nssv3470994, nssv3467778, nssv3477785, nssv3478941, nssv3470654, nssv3467141
Samples
Known GenesRHD
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006789
Frequency
Sample Size29084
Observed Gain3
Observed Loss19
Observed Complex0
Frequencyn/a


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